Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587776705
FBXO11 ; MSH6
1.000 0.160 2 47803633 inframe deletion GTG/- del 1
rs756580931
LOC105373796 ; PMS1
1.000 0.160 2 189863996 missense variant A/G snv 1
rs267607990
MSH2
1.000 0.160 2 47476362 splice region variant T/A;C snv 1
rs121434630
PMS2
1.000 0.160 7 6004003 stop gained A/T snv 1
rs146848345
PMS2
1.000 0.160 7 5987327 missense variant C/G;T snv 8.0E-06; 2.8E-05 1
rs200726484
PMS2
1.000 0.160 7 5987456 missense variant G/A snv 1.2E-05 2.1E-05 1
rs368516768
PMS2
1.000 0.160 7 5987255 missense variant C/G snv 2.8E-05 6.3E-05 1
rs587779328
PMS2
1.000 0.160 7 5987302 missense variant G/A;T snv 8.0E-06; 4.0E-06 1
rs587779346
PMS2
1.000 0.160 7 5992040 missense variant A/C snv 1
rs769554577
PMS2
1.000 0.160 7 6004025 missense variant A/G snv 1.6E-05 4.2E-05 1
rs397514684
MLH1
1.000 0.160 3 37000965 missense variant T/C;G snv 2
rs587776706
MSH6 ; FBXO11
1.000 0.160 2 47805692 frameshift variant -/T delins 2
rs1554298082
PMS2
1.000 0.160 7 5987601 frameshift variant A/- del 2
rs188006077
PMS2
1.000 0.160 7 6003724 missense variant G/A snv 1.3E-05 2
rs587779345
PMS2
0.925 0.200 7 5997342 missense variant G/C snv 4.0E-06 2
rs587780724
PMS2
1.000 0.160 7 5987389 stop gained G/C;T snv 2
rs63750106
PMS2
0.925 0.200 7 5987458 frameshift variant -/T delins 2
rs63750685
PMS2
0.925 0.200 7 5987328 missense variant G/A;C snv 1.6E-05; 4.2E-03 2
rs63750793
PMS2
0.925 0.200 7 6004040 frameshift variant T/- del 2
rs63750947
PMS2
0.925 0.200 7 5987012 missense variant G/T snv 8.0E-06 1.4E-05 2
rs121912965
EPM2AIP1 ; MLH1
0.882 0.200 3 36993651 missense variant TG/AC mnv 3
rs267607970
MSH2
0.925 0.200 2 47470964 splice acceptor variant G/A snv 3
rs63751449
MSH2
0.925 0.200 2 47410178 frameshift variant A/-;AA delins 3
rs763606858
MSH6 ; FBXO11
0.882 0.200 2 47799854 missense variant G/A;T snv 2.8E-05; 4.0E-06 3
rs587776715
PMS2
0.925 0.200 7 5987544 frameshift variant C/- delins 3